| 1. |
- Assimes, Themistocles L., et al.
(författare)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Tidskriftsartikel (refereegranskat)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 2. |
- Hilbert, Kevin, et al.
(författare)
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Cortical and Subcortical Brain Alterations in Specific Phobia and Its Animal and Blood-Injection-Injury Subtypes: A Mega-Analysis From the ENIGMA Anxiety Working Group.
- 2024
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Ingår i: The American Journal of Psychiatry. - 1535-7228. ; 181:8, s. 728-740
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Tidskriftsartikel (refereegranskat)abstract
- Specific phobia is a common anxiety disorder, but the literature on associated brain structure alterations exhibits substantial gaps. The ENIGMA Anxiety Working Group examined brain structure differences between individuals with specific phobias and healthy control subjects as well as between the animal and blood-injection-injury (BII) subtypes of specific phobia. Additionally, the authors investigated associations of brain structure with symptom severity and age (youths vs. adults).Data sets from 31 original studies were combined to create a final sample with 1,452 participants with phobia and 2,991 healthy participants (62.7% female; ages 5-90). Imaging processing and quality control were performed using established ENIGMA protocols. Subcortical volumes as well as cortical surface area and thickness were examined in a preregistered analysis.Compared with the healthy control group, the phobia group showed mostly smaller subcortical volumes, mixed surface differences, and larger cortical thickness across a substantial number of regions. The phobia subgroups also showed differences, including, as hypothesized, larger medial orbitofrontal cortex thickness in BII phobia (N=182) compared with animal phobia (N=739). All findings were driven by adult participants; no significant results were observed in children and adolescents.Brain alterations associated with specific phobia exceeded those of other anxiety disorders in comparable analyses in extent and effect size and were not limited to reductions in brain structure. Moreover, phenomenological differences between phobia subgroups were reflected in diverging neural underpinnings, including brain areas related to fear processing and higher cognitive processes. The findings implicate brain structure alterations in specific phobia, although subcortical alterations in particular may also relate to broader internalizing psychopathology.
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| 3. |
- Northcott, Paul A, et al.
(författare)
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Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.
- 2014
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 511:7510, s. 428-428
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Tidskriftsartikel (refereegranskat)abstract
- Medulloblastoma is a highly malignant paediatric brain tumour currently treated with a combination of surgery, radiation and chemotherapy, posing a considerable burden of toxicity to the developing child. Genomics has illuminated the extensive intertumoral heterogeneity of medulloblastoma, identifying four distinct molecular subgroups. Group 3 and group 4 subgroup medulloblastomas account for most paediatric cases; yet, oncogenic drivers for these subtypes remain largely unidentified. Here we describe a series of prevalent, highly disparate genomic structural variants, restricted to groups 3 and 4, resulting in specific and mutually exclusive activation of the growth factor independent 1 family proto-oncogenes, GFI1 and GFI1B. Somatic structural variants juxtapose GFI1 or GFI1B coding sequences proximal to active enhancer elements, including super-enhancers, instigating oncogenic activity. Our results, supported by evidence from mouse models, identify GFI1 and GFI1B as prominent medulloblastoma oncogenes and implicate 'enhancer hijacking' as an efficient mechanism driving oncogene activation in a childhood cancer.
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| 21. |
- Abel, Andreas, 1974, et al.
(författare)
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POPLMark reloaded: Mechanizing proofs by logical relations
- 2019
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Ingår i: Journal of Functional Programming. - : Cambridge University Press (CUP). - 0956-7968 .- 1469-7653. ; 29
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Tidskriftsartikel (refereegranskat)abstract
- We propose a new collection of benchmark problems in mechanizing the metatheory of programming languages, in order to compare and push the state of the art of proof assistants. In particular, we focus on proofs using logical relations (LRs) and propose establishing strong normalization of a simply typed calculus with a proof by Kripke-style LRs as a benchmark. We give a modern view of this well-understood problem by formulating our LR on well-typed terms. Using this case study, we share some of the lessons learned tackling this problem in different dependently typed proof environments. In particular, we consider the mechanization in Beluga, a proof environment that supports higher-order abstract syntax encodings and contrast it to the development and strategies used in general-purpose proof assistants such as Coq and Agda. The goal of this paper is to engage the community in discussions on what support in proof environments is needed to truly bring mechanized metatheory to the masses and engage said community in the crafting of future benchmarks.
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| 22. |
- Blanton, Michael R., et al.
(författare)
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Sloan Digital Sky Survey IV : Mapping the Milky Way, Nearby Galaxies, and the Distant Universe
- 2017
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Ingår i: Astronomical Journal. - : IOP Publishing Ltd. - 0004-6256 .- 1538-3881. ; 154:1
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Tidskriftsartikel (refereegranskat)abstract
- We describe the Sloan Digital Sky Survey IV (SDSS-IV), a project encompassing three major spectroscopic programs. The Apache Point Observatory Galactic Evolution Experiment 2 (APOGEE-2) is observing hundreds of thousands of Milky Way stars at high resolution and. high signal-to-noise ratios in the near-infrared. The Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey is obtaining spatially resolved spectroscopy for thousands of nearby galaxies (median z similar to 0.03). The extended Baryon Oscillation Spectroscopic Survey (eBOSS) is mapping the galaxy, quasar, and neutral gas distributions between z similar to 0.6 and 3.5 to constrain cosmology using baryon acoustic oscillations, redshift space distortions, and the shape of the power spectrum. Within eBOSS, we are conducting two major subprograms: the SPectroscopic IDentification of eROSITA Sources (SPIDERS), investigating X-ray AGNs. and galaxies in X-ray clusters, and the Time Domain Spectroscopic Survey (TDSS), obtaining spectra of variable sources. All programs use the 2.5 m Sloan Foundation Telescope at the. Apache Point Observatory; observations there began in Summer 2014. APOGEE-2 also operates a second near-infrared spectrograph at the 2.5 m du Pont Telescope at Las Campanas Observatory, with observations beginning in early 2017. Observations at both facilities are scheduled to continue through 2020. In keeping with previous SDSS policy, SDSS-IV provides regularly scheduled public data releases; the first one, Data Release 13, was made available in 2016 July.
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| 23. |
- Chen, Hao Yu, et al.
(författare)
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Association of FADS1/2 Locus Variants and Polyunsaturated Fatty Acids With Aortic Stenosis
- 2020
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Ingår i: JAMA cardiology. - : American Medical Association (AMA). - 2380-6583 .- 2380-6591. ; 5:6, s. 694-702
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Tidskriftsartikel (refereegranskat)abstract
- Importance: Aortic stenosis (AS) has no approved medical treatment. Identifying etiological pathways for AS could identify pharmacological targets.Objective: To identify novel genetic loci and pathways associated with AS.Design, Setting, and Participants: This genome-wide association study used a case-control design to evaluate 44 703 participants (3469 cases of AS) of self-reported European ancestry from the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort (from January 1, 1996, to December 31, 2015). Replication was performed in 7 other cohorts totaling 256 926 participants (5926 cases of AS), with additional analyses performed in 6942 participants from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Follow-up biomarker analyses with aortic valve calcium (AVC) were also performed. Data were analyzed from May 1, 2017, to December 5, 2019.Exposures: Genetic variants (615 643 variants) and polyunsaturated fatty acids (ω-6 and ω-3) measured in blood samples.Main Outcomes and Measures: Aortic stenosis and aortic valve replacement defined by electronic health records, surgical records, or echocardiography and the presence of AVC measured by computed tomography.Results: The mean (SD) age of the 44 703 GERA participants was 69.7 (8.4) years, and 22 019 (49.3%) were men. The rs174547 variant at the FADS1/2 locus was associated with AS (odds ratio [OR] per C allele, 0.88; 95% CI, 0.83-0.93; P = 3.0 × 10-6), with genome-wide significance after meta-analysis with 7 replication cohorts totaling 312 118 individuals (9395 cases of AS) (OR, 0.91; 95% CI, 0.88-0.94; P = 2.5 × 10-8). A consistent association with AVC was also observed (OR, 0.91; 95% CI, 0.83-0.99; P = .03). A higher ratio of arachidonic acid to linoleic acid was associated with AVC (OR per SD of the natural logarithm, 1.19; 95% CI, 1.09-1.30; P = 6.6 × 10-5). In mendelian randomization, increased FADS1 liver expression and arachidonic acid were associated with AS (OR per unit of normalized expression, 1.31 [95% CI, 1.17-1.48; P = 7.4 × 10-6]; OR per 5-percentage point increase in arachidonic acid for AVC, 1.23 [95% CI, 1.01-1.49; P = .04]; OR per 5-percentage point increase in arachidonic acid for AS, 1.08 [95% CI, 1.04-1.13; P = 4.1 × 10-4]).Conclusions and Relevance: Variation at the FADS1/2 locus was associated with AS and AVC. Findings from biomarker measurements and mendelian randomization appear to link ω-6 fatty acid biosynthesis to AS, which may represent a therapeutic target.
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| 24. |
- Clark, Andrew G., et al.
(författare)
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Evolution of genes and genomes on the Drosophila phylogeny
- 2007
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 450:7167, s. 203-218
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Tidskriftsartikel (refereegranskat)abstract
- Comparative analysis of multiple genomes in a phylogenetic framework dramatically improves the precision and sensitivity of evolutionary inference, producing more robust results than single-genome analyses can provide. The genomes of 12 Drosophila species, ten of which are presented here for the first time (sechellia, simulans, yakuba, erecta, ananassae, persimilis, willistoni, mojavensis, virilis and grimshawi), illustrate how rates and patterns of sequence divergence across taxa can illuminate evolutionary processes on a genomic scale. These genome sequences augment the formidable genetic tools that have made Drosophila melanogaster a pre-eminent model for animal genetics, and will further catalyse fundamental research on mechanisms of development, cell biology, genetics, disease, neurobiology, behaviour, physiology and evolution. Despite remarkable similarities among these Drosophila species, we identified many putatively non-neutral changes in protein-coding genes, non-coding RNA genes, and cis-regulatory regions. These may prove to underlie differences in the ecology and behaviour of these diverse species.
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| 25. |
- Erdmann, Jeanette, et al.
(författare)
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New susceptibility locus for coronary artery disease on chromosome 3q22.3
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:3, s. 280-282
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Tidskriftsartikel (refereegranskat)abstract
- We present a three-stage analysis of genome-wide SNP data in 1,222 German individuals with myocardial infarction and 1,298 controls, in silico replication in three additional genome-wide datasets of coronary artery disease (CAD) and subsequent replication in similar to 25,000 subjects. We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11).
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| 26. |
- Ericson, Anne, et al.
(författare)
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Computed tomography analysis of radiostereometric data to determine flexion axes after total joint replacement : Application to the elbow joint
- 2010
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Ingår i: Journal of Biomechanics. - : Elsevier BV. - 0021-9290 .- 1873-2380. ; 43:10, s. 1947-1952
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Tidskriftsartikel (refereegranskat)abstract
- Kinematic analysis for in vivo assessment of elbow endoprostheses requires knowledge of the exact positions of motion axes relative to bony landmarks or the prosthesis. A prosthesis-based reference system is required for comparison between individuals and studies. The primary aim of this study was to further develop an earlier described algorithm for fusion of radiostereometric analysis (RSA) data and data obtained in 3D computed tomography (CT) for application to the elbow after total joint replacement. The secondary aim was to propose a method for marking of prostheses in 3D CT, enabling definition of a prosthesis-based reference system. Six patients with elbow endoprostheses were investigated. The fusion of data made it possible to visualize the motion axes in relation to the prostheses in the 3D CT volume. The differences between two repeated positioning repetitions of the longitudinal prosthesis axis were less than 0.6 degrees in the frontal and sagittal planes. Corresponding values for the transverse axis were less than 0.6 degrees in the frontal and less than 1.4 degrees (in four out of six less than 0.6 degrees) in the horizontal plane. This study shows that by fusion of CT and RSA data it is possible to determine the accurate position of the flexion axes of the elbow joint after total joint replacement in vivo. The proposed method for implant marking and registration of reference axes enables comparison of prosthesis function between patients and studies.
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| 27. |
- Ericson, Anne, et al.
(författare)
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Fusion of radio stereometric analysis data into computed tomography space : Application to the elbow joint
- 2007
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Ingår i: Journal of Biomechanics. - Oxford, UK : Elsevier Science Ltd. - 0021-9290 .- 1873-2380. ; 40:2, s. 296-304
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Tidskriftsartikel (refereegranskat)abstract
- Improvement of joint prostheses is dependent upon information concerning the biomechanical properties of the joint. Radiostereometric analysis (RSA) and electromagnetic techniques have been applied in previous cadaver and in vivo studies on the elbow joint to provide valuable information concerning joint motion axes. However, such information is limited to mathematically calculated positions of the axes according to an orthogonal coordinate system and is difficult to relate to individual skeletal anatomy. The aim of this study was to evaluate the in vivo application of a new fusion method to provide three-dimensional (31)) visualization of flexion axes according to bony landmarks. In vivo RSA data of the elbow joint's flexion axes was combined with data obtained by 3D computed tomography (CT). Results were obtained from five healthy subjects after one was excluded due to an instable RSA marker. The median error between imported and transformed RSA marker coordinates and those obtained in the CT volume was 0.22mm. Median maximal rotation error after transformation of the rigid RSA body to the CT volume was 0.003 degrees. Points of interception with a plane calculated in the RSA orthogonal coordinate system were imported into the CT volume, facilitating the 3D visualization of the flexion axes. This study demonstrates a successful fusion of RSA and CT data, without significant loss of RSA accuracy. The method could be used for relating individual motion axes to a 3D representation of relevant joint anatomy, thus providing important information for clinical applications such as the development of joint prostheses.
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| 28. |
- Jedenmalm, Anneli, et al.
(författare)
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Validation of a 3D CT method for measurement of linear wear of acetabular cups : A hip simulator study
- 2011
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Ingår i: Acta Orthopaedica. - : Medical Journals Sweden AB. - 1745-3674 .- 1745-3682. ; 82:1, s. 35-41
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Tidskriftsartikel (refereegranskat)abstract
- Material and methods Ultra-high molecular weight polyethylene cups with a titanium mesh molded on the outside were subjected to wear using a hip simulator. Before and after wear, they were (1) imaged with a CT scanner using a phantom model device, (2) measured using a coordinate measurement machine (CMM), and (3) weighed. CMM was used as the reference method for measurement of femoral head penetration into the cup and for comparison with CT, and gravimetric measurements were used as a reference for both CT and CMM. Femoral head penetration and wear vector angle were studied. The head diameters were also measured with both CMM and CT. The repeatability of the method proposed was evaluated with two repeated measurements using different positions of the phantom in the CT scanner. Results The accuracy of the 3D CT method for evaluation of linear wear was 0.51 mm and the repeatability was 0.39 mm. Repeatability for wear vector angle was 17 degrees A degrees. Interpretation This study of metal-meshed hip-simulated acetabular cups shows that CT has the capacity for reliable measurement of linear wear of acetabular cups at a clinically relevant level of accuracy.
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| 29. |
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| 30. |
- Johansson Stark, Åsa, 1959-, et al.
(författare)
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The quality of recovery on discharge from hospital, a comparison between patients undergoing hip and knee replacement : a European study
- 2016
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Ingår i: Journal of Clinical Nursing. - : Wiley-Blackwell Publishing Inc.. - 0962-1067 .- 1365-2702. ; 25:17-18, s. 2489-2501
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Tidskriftsartikel (refereegranskat)abstract
- Aims and objectives. To describe and compare the quality of recovery (QoR) on discharge from hospital between patients undergoing elective hip or knee replacement. The study will also attempt to identify any predicting factors.Background. Arthroplasty is commonly used for an increasing population of patients with osteoarthritis, and the recovery process starts directly after surgery. Today’s shorter hospital stay may be a challenge for the patients during the early period of recovery. It is therefore important to identify factors associated with QoR at discharge from hospital.Design. A descriptive, comparative study including 12 hospitals in five European countries; Cyprus, Finland, Greece, Iceland and Sweden.Methods. Consecutively included patients responded on: Health-Related Quality of Life, and emotions before surgery and at hospital discharge; Quality of Recovery, Patient Satisfaction and fulfilment of knowledge expectations. Related factors and associations were analysed separately for each kind of arthroplasty. In total 865 patients were included (hip n=413, knee n=452).Results. In the dimension of pain, patients undergoing hip replacement had significantly better QoR compared to those undergoing knee replacement. Both patient groups experienced negative emotions before surgery that were related to poorer QoR. Fulfilment of knowledge expectations has a limited effect on QoR. Greater satisfaction with care predicted better QoR.Conclusions. Negative preoperative emotions were related to poorer QoR. For both kinds of arthroplasty, greater satisfaction with care was associated with better QoR.Relevance to clinical practice. The result emphasises the need to detect patients in need of support in their preparation and recovery process, taking into account the perspective of their emotional state.
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| 31. |
- Lin, Sen, 1993-, et al.
(författare)
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Effect of Mo addition on bainite formation in steels - A high-energy X-ray diffraction study
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The influence of Mo addition (0, 0.1, 0.4 wt%) on the bainitic transformation in a steel with base composition Fe-0.2C-1.7Mn-0.4Si (in wt%) was studied by means of in-situ high-energy X-ray diffraction (HEXRD) and electron microscopy. The phase evolution of bainitic ferrite, cementite and retained austenite during isothermal heat treatment at 673, 723, and 773 K was quantitatively analyzed. The evolution of the C content in the retained austenite and the dislocation density in the bainitic ferrite were also investigated. The results show that the addition of 0.1 wt% Mo barely affects the transformation kinetics, while the addition of 0.4 wt% Mo leads to a bay in the time-temperature-transformation diagram, possibly due to a solute drag effect. The incomplete transformation occurs at the highest isothermal heat treatment temperature, i.e., 773 K. At the lower isothermal heat treatment temperature 673 K, the bainitic transformation is accelerated by adding 0.4 wt% Mo due to an increased tendency of cementite formation, which decreases the overall C content in retained austenite and C and Mo accumulation at the phase interface, thus reducing the solute drag effect.
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| 32. |
- Lin, Sen, et al.
(författare)
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Effect of Si on bainitic transformation kinetics in steels explained by carbon partitioning, carbide formation, dislocation densities, and thermodynamic conditions
- 2022
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Ingår i: Materials Characterization. - : Elsevier BV. - 1044-5803 .- 1873-4189. ; 185
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Tidskriftsartikel (refereegranskat)abstract
- The effect of Si addition on the evolution of bainitic transformation, carbon diffusion, carbide formation, and dislocation density in steel was investigated using in-situ high-energy X-ray diffraction (HEXRD). Alloys Fe-0.4C-1.7Mn (in wt%) with 1-4 wt% Si were austenitized at 1273 K and then isothermally heat treated at 573, 623, and 673 K. According to the HEXRD results, increasing Si content reduces the bainitic transformation kinetics and causes the incompleteness of the bainitic transformation to occur at lower bainite volume fraction. This is because i) Si retards carbide formation, impeding the eutectoid bainitic transformation, and leads to the accumulation of carbon at the migrating interface; ii) Si leads to higher strain energy and more dislocations in the austenite that also hinders the migration of the interface. Carbide formation was observed to occur prior to the incomplete transformation stage. During further isothermal holding, the decrease in dislocation density due to dislocation annihilation had little effect on carbide formation or carbon diffusion. Finally, the Si content has a minor effect on the calculated T-0, T-0', and WBs lines. The measured carbon content in carbon enriched austenite agrees well with WBs and T-0 but not with T-0'.
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| 33. |
- Lin, Sen, 1993-, et al.
(författare)
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Formation of cementite and transition carbides during bainitic transformation in steels with and without incomplete transformation stage
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- The kinetics of carbide precipitation during isothermal bainitic transformation in a Fe-0.448C-1.78Mn-1.20Si (in wt%) steel is investigated using in-situ high-energy X-ray diffraction and electron microscopy. For the sample heat treated at 623 K for 1 h, the bainitic transformation is incomplete and transition carbides are observed. For the sample heat treated at 673 K, the initial formation of bainitic ferrite is accompanied by the formation of transition carbide, and at a later transformation stage, cementite starts to form until the bainitic transformation reaches completion, whereas the amount of transition carbides decreases.
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| 34. |
- Lin, Sen, et al.
(författare)
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In-Situ High-Energy X-ray Diffraction Study of Austenite Decomposition During Rapid Cooling and Isothermal Holding in Two HSLA Steels
- 2021
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Ingår i: Metallurgical and Materials Transactions. A. - : Springer Nature. - 1073-5623 .- 1543-1940. ; 52:5, s. 1812-1825
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Tidskriftsartikel (refereegranskat)abstract
- In-situ high-energy X-ray diffraction experiments with high temporal resolution during rapid cooling (280 degrees C s(-1)) and isothermal heat treatments (at 450 degrees C, 500 degrees C, and 550 degrees C for 30 minutes) were performed to study austenite decomposition in two commercial high-strength low-alloy steels. The rapid phase transformations occurring in these types of steels are investigated for the first time in-situ, aiding a detailed analysis of the austenite decomposition kinetics. For the low hardenability steel with main composition Fe-0.08C-1.7Mn-0.403Si-0.303Cr in weight percent, austenite decomposition to polygonal ferrite and bainite occurs already during the initial cooling. However, for the high hardenability steel with main composition Fe-0.08C-1.79Mn-0.182Si-0.757Cr-0.094Mo in weight percent, the austenite decomposition kinetics is retarded, chiefly by the Mo addition, and therefore mainly bainitic transformation occurs during isothermal holding; the bainitic transformation rate at the isothermal holding is clearly enhanced by lowered temperature from 550 degrees C to 500 degrees C and 450 degrees C. During prolonged isothermal holding, carbide formation leads to decreased austenite carbon content and promotes continued bainitic ferrite formation. Moreover, at prolonged isothermal holding at higher temperatures some degenerate pearlite form.
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| 35. |
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| 36. |
- Oberst, J., et al.
(författare)
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Planetary polar explorer – the case for a next-generation remote sensing mission to low Mars orbit
- 2022
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Ingår i: Experimental Astronomy. - : Springer Science and Business Media LLC. - 0922-6435 .- 1572-9508. ; 54, s. 695-711
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Tidskriftsartikel (refereegranskat)abstract
- We propose the exploration of polar areas on Mars by a next-generation orbiter mission. In particular, we aim at studying the seasonal and regional variations in snow-deposits, which – in combination with measurements of temporal variations in rotation and gravity field – will improve models of the global planetary CO2 cycle. A monitoring of polar scarps for rock falls and avalanche events may provide insights into the dynamics of ice sheets. The mapping of the complex layering of polar deposits, believed to contain an important record of climate history, may help us understand the early climate collapse on the planet. Hence, we propose an innovative next-generation exploration mission in polar circular Low Mars Orbit, which will be of interest to scientists and challenging to engineers alike. Schemes will be developed to overcome atmosphere drag forces acting upon the spacecraft by an electric propulsion system. Based on the experience of missions of similar type in Earth orbit we believe that a two-year mission in circular orbit is possible at altitudes as low as 150 km. Such a mission opens new opportunities for novel remote sensing approaches, not requiring excessive telescope equipment or power. We anticipate precision altimetry, powerful radars, high-resolution imaging, and magnetic field mapping. © 2022, The Author(s).
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| 37. |
- Olivecrona, Henrik, et al.
(författare)
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A new CT method for measuring cup orientation after total hip arthroplasty : A study of 10 patients
- 2004
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Ingår i: Acta Orthopaedica Scandinavica. - : Medical Journals Sweden AB. - 0001-6470. ; 75:3, s. 252-260
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Tidskriftsartikel (refereegranskat)abstract
- Background It is difficult to assess the orientation of the acetabular component on routine radiographs. We present a method for determining the spatial orientation of the acetabular component after total hip arthroplasty (THA) using computed tomography. Patients and methods Two CT-scans, 10 min apart, were obtained from each of 10 patients after THA. Using locally developed software, two independent examiners measured the orientation of the acetabular component in relation to the pelvis. The measurements were repeated after one week. To be independent of the patient position during scanning, the method involved two steps. Firstly, a 3D volumetric image of the pelvis was brought into a standard pelvic orientation, then the orientation of the acetabular component was measured. The orientation of the acetabular component was expressed as operative anteversion and inclination relative to an internal pelvic reference coordinate system. To evaluate precision, we compared measurements across pairs of CT volumes between observers and trials. Results Mean absolute interobserver angle error was 2.3degrees for anteversion (range 0-6.6degrees), and 1.1degrees for inclination (range 0-4.6degrees). For interobserver measurements, the precision, defined as one standard deviation, was 2.9degrees for anteversion, and 1.5degrees for inclination. A Student's West showed that the overall differences between the examiners, trials, and cases were not significant. Data were normally distributed and were not dependent on examiner or trial. Interpretation We conclude that the implant angles of the acetabular component in relation to the pelvis could be detected repeatedly using CT, independently of patient positioning.
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| 38. |
- Olivecrona, Lotta, et al.
(författare)
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Standard orientation of the pelvis : Validation on a model and ten patients
- 2005
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Ingår i: Acta Radiologica. - London, UK : Informa Healthcare. - 0284-1851 .- 1600-0455. ; 46:1, s. 74-82
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To validate an image post-processing method for re-orienting the pelvis in CT volumes to a standardized orientation in a model and in 10 patients. Material and Methods: Twenty-four CT volumes of a pelvic model and 10 pairs of postoperative total hip arthroplasty (THA) patient CT scans were rotated to a defined pelvic standard orientation and the rotation was recorded. For precision, a test-retest procedure was used. For accuracy, three exactly represented coordinate points were used. For clinical application, the standard orientation was used for calculating the direction of acetabular cup migration from a previous model study. Results: Precision of pelvic standard orientation, calculated as maximal directional error, was better than 1degrees in the model study and better than 1.5degrees in the patient study. Accuracy, expressed as angle between ideal and measured coordinate axes, was 0.1degrees for x, y, z axes. No measurable systematic errors were found. When applied to acetabular cup migration in the model, standardization of pelvic orientation had no significant effect on the measurements. Conclusion: Reorienting the pelvis during image post-processing was shown to be accurate. It enables measurements relative to the pelvis and minimizes the dependency of patient positioning.
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| 39. |
- Persson, Marie, et al.
(författare)
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Operational strategies to manage non-elective orthopaedic surgical flows : A simulation modelling study
- 2017
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Ingår i: BMJ Open. - London : BMJ Publishing Group. - 2044-6055. ; 7:4
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Tidskriftsartikel (refereegranskat)abstract
- Objectives To explore the value of simulation modelling in evaluating the effects of strategies to plan and schedule operating room (OR) resources aimed at reducing time to surgery for non-elective orthopaedic inpatients at a Swedish hospital. Methods We applied discrete-event simulation modelling. The model was populated with real world data from a university hospital with a strong focus on reducing waiting time to surgery for patients with hip fracture. The system modelled concerned two patient groups that share the same OR resources: hip-fracture and other non-elective orthopaedic patients in need of surgical treatment. We simulated three scenarios based on the literature and interaction with staff and managers: (1) baseline; (2) reduced turnover time between surgeries by 20â €..min and (3) one extra OR during the day, Monday to Friday. The outcome variables were waiting time to surgery and the percentage of patients who waited longer than 24â €..hours for surgery. Results The mean waiting time in hours was significantly reduced from 16.2â €..hours in scenario 1 (baseline) to 13.3â €..hours in scenario 2 and 13.6â €..hours in scenario 3 for hip-fracture surgery and from 26.0â €..hours in baseline to 18.9â €..hours in scenario 2 and 18.5â €..hours in scenario 3 for other non-elective patients. The percentage of patients who were treated within 24â €..hours significantly increased from 86.4% (baseline) to 96.1% (scenario 2) and 95.1% (scenario 3) for hip-fracture patients and from 60.2% (baseline) to 79.8% (scenario 2) and 79.8% (scenario 3) for patients with other non-elective patients. Conclusions Healthcare managers who strive to improve the timelines of non-elective orthopaedic surgeries may benefit from using simulation modelling to analyse different strategies to support their decisions. In this specific case, the simulation results showed that the reduction of surgery turnover times could yield the same results as an extra OR. © 2017 Published by the BMJ Publishing Group Limited.
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| 40. |
- Pettersson, Paula Kelly, et al.
(författare)
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The identification of adverse events in hip fracture patients using the Global Trigger Tool : A prospective observational cohort study.
- 2020
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Ingår i: International Journal of Orthopaedic and Trauma Nursing. - : Elsevier BV. - 1878-1241 .- 1878-1292.
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Hip fracture is common in the elderly and is associated with high comorbidity, mortality and complication rates. There has been an increase in the investigation of healthcare-related adverse events (AEs) in some patient groups but there is limited knowledge about hip fracture patients. The aim was to explore the incidence, preventability and nature of AEs in hip fracture patients.METHODS: One hundred and sixty three hip fracture patients participated. A record review was conducted of prospectively collected data using Global Trigger Tool methodology to identify AEs up to 90 days after surgery.RESULTS: Sixty two (38.0%) of 163 patients had at least one AE (range 1-7). One hundred and two AEs were identified and 62 (60.8%) were deemed preventable. Healthcare-associated infections e.g. pneumonia, urinary tract infections and pressure ulcers were common. AEs were more common in older patients and those with pre-existing health conditions. Fifty eight (56.9%) AEs caused temporary harm and 4 (3.9%) contributed to patient death.CONCLUSION: AEs are common in hip fracture patients and most are preventable. If the focus is on improving healthcare for these patients, we should be concentrating our efforts on reducing the number of these preventable AEs, with a particular emphasis on improving the care of older patients with pre-existing health conditions.
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| 41. |
- Schunkert, Heribert, et al.
(författare)
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:4, s. 153-333
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Tidskriftsartikel (refereegranskat)abstract
- We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 x 10(-8) and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits.
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| 42. |
- Sigurdardottir, Arun K, et al.
(författare)
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Fulfilment of knowledge expectations among family members of patients undergoing arthroplasty: a European perspective
- 2015
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Ingår i: Scandinavian Journal of Caring Sciences. - : Wiley-Blackwell. - 0283-9318 .- 1471-6712. ; 29:4, s. 615-624
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Tidskriftsartikel (refereegranskat)abstract
- In the recovery process of arthroplasty patients, their family members play an important role due to short hospital stay and increased age of patients. Family members need to have knowledge to be able to support the patient. The aim of this study was to explore expected and received knowledge in family members of arthroplasty patients and describe the relationships between the differences in received and expected knowledge and background factors, country, information and control preferences and access to knowledge. The study was conducted in six European countries (Cyprus, Greece, Finland, Iceland, Spain and Sweden). The study design was cross-cultural, prospective and comparative with two measurement points: pre-operative and at discharge from hospital. Knowledge Expectations of significant other-scale and Krantz Health Opinion Survey were used before surgery and Received Knowledge of significant other-scale and Access to Knowledge at discharge. Patients undergoing elective hip or knee arthroplasty in seventeen hospitals were asked to identify one family member. The sample size was decided by power calculation. A total of 615 participants answered the questionnaires at both measurements. Family members perceived to receive less knowledge than they expected to have, most unfulfilled knowledge expectations were in the financial, social and experiential dimensions of knowledge. Seventy-four per cent of participants had unfulfilled knowledge expectations. Increased access to information from healthcare providers decreased the difference between received and expected knowledge. Compared to family members in southern Europe, those in the Nordic countries had more unfulfilled knowledge expectations and less access to information from healthcare providers. The evidence from this study highlights the need to involve the family members in the educational approach.
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| 43. |
- Soranzo, Nicole, et al.
(författare)
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A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
- 2009
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:11, s. 38-1182
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Tidskriftsartikel (refereegranskat)abstract
- The number and volume of cells in the blood affect a wide range of disorders including cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here the genetic variation in eight clinically relevant hematological parameters, including hemoglobin levels, red and white blood cell counts and platelet counts and volume. We describe common variants within 22 genetic loci reproducibly associated with these hematological parameters in 13,943 samples from six European population-based studies, including 6 associated with red blood cell parameters, 15 associated with platelet parameters and 1 associated with total white blood cell count. We further identified a long-range haplotype at 12q24 associated with coronary artery disease and myocardial infarction in 9,479 cases and 10,527 controls. We show that this haplotype demonstrates extensive disease pleiotropy, as it contains known risk loci for type 1 diabetes, hypertension and celiac disease and has been spread by a selective sweep specific to European and geographically nearby populations.
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| 44. |
- Stark, Andreas, et al.
(författare)
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Hybrid digital manufacturing: Capturing the value of digitalization
- 2023
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Ingår i: Journal of Operations Management. - : Wiley. - 1873-1317 .- 0272-6963. ; 69:6, s. 890-910
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Tidskriftsartikel (refereegranskat)abstract
- A chasm is growing between the advanced technologies available for improving manufacturing operations and those effectively used in practice. The vision of Industry 4.0 is to mobilize industry to seek out these possibilities for improvement and to close the gap between opportunity and reality. However, when compared with more established improvement opportunities such as lean manufacturing, the digitalization of manufacturing lacks in both paradigmatic examples and an understanding of how to achieve the benefits. This lack is a complication of concern: Without an appropriate operations strategy to capture the value of digitalization, manufacturing companies will be unable to focus on technological investments and operational changes. To address this concern, operations management academics must develop new theory through active engagement in the practice of digitalization in manufacturing. This research presents a paradigmatic example, based on engaged scholarship, focused on effectively combining novel object-interactive and conventional manufacturing syntax for benefiting from digitalization in internal operations and the wider supply chain. The contribution to literature is a novel operations strategy—hybrid digital manufacturing—for capturing the value of Industry 4.0 technologies.
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| 45. |
- Stark, Lisa
(författare)
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Staphylococcus aureus : aspects of pathogenesis and molecular epidemiology
- 2013
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Staphylococcus aureus is a human commensal colonizing about 30 per cent of the population. Besides, it is a frequent cause of infections such as skin, wound and deep tissue infections and also more life-threatening conditions such as pneumonia, endocarditis and septicaemia. S. aureus may also cause different toxicoses. Moreover, this bacterium is one of the most common causes of nosocomial infections worldwide and an increase in antibiotic resistance, especially against methicillin, is seen. This underlines the importance to prevent and control outbreaks of S. aureus. The aims of this thesis were to increase the knowledge of S. aureus virulence and pathogenesis as well as to understand pattern of colonization and transmission.Various virulence factors operate together in the pathogenic process of S. aureus. The virulence of S. aureus was studied by the interaction with human umbilical vein endothelial cells (HUVEC) as a model. In paper I, we found that one bacterial isolate survived intracellularly and that 156 genes were differentially regulated in microarray analysis of HUVEC. The major part of these genes coded for proteins involved in innate immunity. In paper II, we wanted to explore possible differences in global gene expression patterns in HUVEC induced by invasive compared to colonizing isolates of S. aureus. We also used microarray to investigate possible differences in the presence of virulence genes between the two groups. The main finding was that virulent and commensal S. aureus did not differ in interaction with HUVEC and in the presence of virulence genes. All isolates survived intracellularly for days.Since no obvious differences in virulence between the two groups of isolates were found, we focused on epidemiology and transmission patterns. Colonization with S. aureus is an important risk factor for subsequent S. aureus infection. In paper III, we investigated S. aureus colonization and transmission among nursing home residents in three regions in the south of Sweden and used staphylococcal protein A (spa) typing as an epidemiological tool. A diverse distribution of different spa types was found and a majority of types were unique to one individual. Interestingly, we found a local accumulation of one spa type in one nursing home. Also common spa types were equally distributed in the different regions. We also noted that some individuals were colonized with two different spa types of S. aureus and in five of these cases there was one resistant and one non-resistant strain.The issue of multiclonal colonization and infection is highly important and clinical diagnostic laboratories do not routinely address this problem. Therefore, in paper IV a novel method to assess multiclonality of S. aureus was developed. It was based on denaturing gradient gel electrophoresis with the amplification of the spa gene. The method simultaneously separated eight different spa types. It also detected two spa types in an outbreak.In conclusion, we found no differences in virulence genes and in the interaction with HUVEC between commensal and invasive isolates. This indicates that any isolate of S. aureus might have a pathogenic potential. We also confirmed that some spa types are more successful colonizers with a potential to nosocomial spread. The method for detection of multiclonality of S. aureus is of importance in future epidemiological and clinical studies.
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| 46. |
- Stark, Lisa, et al.
(författare)
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Staphylococcus aureus isolates from blood and anterior nares induce similar innate immune responses in endothelial cells
- 2009
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Ingår i: APMIS. - : Wiley. - 0903-4641 .- 1600-0463 .- 0903-465X .- 1600-5503. ; 117:11, s. 814-824
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate the possibility to distinguish virulent from non-virulent isolates, gene expression in human umbilical vein endothelial cells (HUVEC) induced by invasive and colonizing isolates of Staphylococcus aureus was compared. Gene expression in HUVEC was analyzed by microarray analysis after 4 h of infection with Staphylococcus aureus, isolated from healthy nasal carriers (n = 5) and from blood of septic patients (n = 5), to explore possible differences between the groups of bacteria in interaction with HUVEC. All isolates were spa-typed to disclose strain relatedness. Moreover, the isolates were characterized with DNA microarray to determine the presence of virulence genes and to investigate the potential genes of importance in HUVEC interaction. The expression of 41 genes was up-regulated, and four were down-regulated in HUVEC by all isolates. Most of the up-regulated genes encode cytokines, chemokines, interferon-induced proteins, proteins regulating apoptosis and cell proliferation. There was no difference in the gene expression pattern between HUVEC infected with invasive or colonizing isolates. Furthermore, there was no difference in the presence of bacterial virulence genes between the two groups. In conclusion, our data indicate that S. aureus isolates induce comparable expression patterns in HUVEC, irrespective of invasiveness or presence of virulence genes.
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| 47. |
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The Seventeenth Data Release of the Sloan Digital Sky Surveys : Complete Release of MaNGA, MaStar, and APOGEE-2 Data
- 2022
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Ingår i: Astrophysical Journal Supplement Series. - : Institute of Physics (IOP). - 0067-0049 .- 1538-4365. ; 259:2
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Tidskriftsartikel (refereegranskat)abstract
- This paper documents the seventeenth data release (DR17) from the Sloan Digital Sky Surveys; the fifth and final release from the fourth phase (SDSS-IV). DR17 contains the complete release of the Mapping Nearby Galaxies at Apache Point Observatory (MaNGA) survey, which reached its goal of surveying over 10,000 nearby galaxies. The complete release of the MaNGA Stellar Library accompanies this data, providing observations of almost 30,000 stars through the MaNGA instrument during bright time. DR17 also contains the complete release of the Apache Point Observatory Galactic Evolution Experiment 2 survey that publicly releases infrared spectra of over 650,000 stars. The main sample from the Extended Baryon Oscillation Spectroscopic Survey (eBOSS), as well as the subsurvey Time Domain Spectroscopic Survey data were fully released in DR16. New single-fiber optical spectroscopy released in DR17 is from the SPectroscipic IDentification of ERosita Survey subsurvey and the eBOSS-RM program. Along with the primary data sets, DR17 includes 25 new or updated value-added catalogs. This paper concludes the release of SDSS-IV survey data. SDSS continues into its fifth phase with observations already underway for the Milky Way Mapper, Local Volume Mapper, and Black Hole Mapper surveys.
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| 48. |
- Thienel, Manuela, et al.
(författare)
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Immobility-associated thromboprotection is conserved across mammalian species from bear to human
- 2023
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 380:6641, s. 178-187
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Tidskriftsartikel (refereegranskat)abstract
- Venous thromboembolism (VTE) comprising deep venous thrombosis and pulmonary embolism is a major cause of morbidity and mortality. Short-term immobility-related conditions are a major risk factor for the development of VTE. Paradoxically, long-term immobilized free-ranging hibernating brown bears and paralyzed spinal cord injury (SCI) patients are protected from VTE. We aimed to identify mechanisms of immobility-associated VTE protection in a cross-species approach. Mass spectrometry-based proteomics revealed an antithrombotic signature in platelets of hibernating brown bears with heat shock protein 47 (HSP47) as the most substantially reduced protein. HSP47 down-regulation or ablation attenuated immune cell activation and neutrophil extracellular trap formation, contributing to thromboprotection in bears, SCI patients, and mice. This cross-species conserved platelet signature may give rise to antithrombotic therapeutics and prognostic markers beyond immobility-associated VTE.
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| 49. |
- Turro, Ernest, et al.
(författare)
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Whole-genome sequencing of patients with rare diseases in a national health system.
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 583:7814, s. 96-102
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Tidskriftsartikel (refereegranskat)abstract
- Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065extensively phenotypedparticipants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data ofUK Biobankparticipants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.
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| 50. |
- Valkeapää, Kirsi, et al.
(författare)
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Knowledge expectations of surgical orthopaedic patients : A European survey
- 2014
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Ingår i: International Journal of Nursing Practice. - : Wiley-Blackwell. - 1322-7114 .- 1440-172X. ; 20:6, s. 597-607
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Tidskriftsartikel (refereegranskat)abstract
- Ageing population entails a growing international problem of osteoarthritis. Best practices for education of these patients are lacking. This study focused on empowering education in Northern (Finland, Iceland, Lithuania and Sweden) and Southern Europe (Cyprus, Greece and Spain). The aim was to analyse associations between expected knowledge and background factors. The data were collected from European arthroplasty patients with the Knowledge Expectations of hospital patients- scale, (KEhp - scale), including bio-physiological, functional, experiential, ethical, social and financial dimensions. Patients had essential bio-physiological and functional knowledge expectations. Women expected more than men, employed less than retired, unemployed or who worked at home. Generally, patients in Northern countries expected more than in Southern countries. However, highest expectations were found in Sweden and Greece, lowest in Spain and Cyprus. There are differences in knowledge expectations based on patients' backgrounds. Development of common standards in European patient education needs further research.
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